What is Angelman Syndrome?
Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. The seizure disorder in individuals with Angelman Syndrome can be difficult to treat. Feeding disorders in infancy are common, and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with Angelman Syndrome. AS affects all races and both genders equally.Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability. Many individuals with Angelman Syndrome are attracted to water and take great pleasure in activities like swimming and bathing. To see a full list of diagnostic criteria for Angelman Syndrome click here.
People living with AS require life-long care, intense therapies to help develop functional skills and improve their quality of life, and close medical supervision often involving multiple medical interventions. Angelman Syndrome may be misdiagnosed since other syndromes have similar characteristics. To see a list of other syndromes that can be mistaken for Angelman Syndrome click here.
Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of Ube3a prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored. To see why there is hope for a cure click here.
Want more information on the genetics of Angelman Syndrome and what all those medical terms mean?
Please see our Genetics 101 section.
Support
For Family Members, Caregivers, and FriendsThere is a fantastic community of people who are dealing with Angelman Syndrome either as a family member, as a teacher or caregiver, or as a friend. There are numerous ways to link into the community, but three common options are listed here.
1. The Angelman Syndrome Listserv
This is an e-mail listserv for family members, caregivers and friends of those with Angelman Syndrome. You can set up your account to receive each e-mail sent to the listserv, or to get a daily digest of messages. At times the e-mail volume can be high. Some people find it useful to set up an e-mail account specifically for listserv e-mails.2. The Angelman Syndrome Forum
To subscribe or unsubscribe via the World Wide Web, visit https://mailman.ucsd.edu/mailman/listinfo/angelman-l or, via email, send a message with subject or body 'help' to angelman-l-request@mailman.ucsd.edu
This is an online message board for the Angelman Syndrome Community.3. Facebook
http://www.angelmanforum.org/
Look for the Foundation for Angelman Syndrome Therapeutics page http://www.facebook.com/www.cureangelman.org
Here you'll see updates about the Foundation, and will start to meet members of the community you can reach out to and "friend".